Canonical Allele Identifier: CA307844320
Gene: CEBPA HGNC NCBI

Linked Data

ClinVar Variation Id: 1806793
ClinVar RCV Id: RCV002474222 RCV003633670
dbSNP Id: rs1038352346
gnomAD v2: 19-33792927-C-A
gnomAD v3: 19-33302021-C-A
gnomAD v4: 19-33302021-C-A
MyVariant Identifiers: chr19:g.33792927C>A (hg19) chr19:g.33302021C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33302021C>A , CM000681.2:g.33302021C>A GRCh38
NC_000019.9:g.33792927C>A , CM000681.1:g.33792927C>A GRCh37
NC_000019.8:g.38484767C>A NCBI36
NG_012022.1:g.5504G>T , LRG_456:g.5504G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000498907.3:c.394G>T MANE Select ENSP00000427514.1:p.Gly132Cys
ENST00000498907.2:c.394G>T ENSP00000427514.1:p.Gly132Cys
NM_001285829.1:c.37G>T NP_001272758.1:p.Gly13Cys
NM_001287424.1:c.499G>T NP_001274353.1:p.Gly167Cys
NM_001287435.1:c.352G>T NP_001274364.1:p.Gly118Cys
NM_004364.4:c.394G>T NP_004355.2:p.Gly132Cys
NM_001287424.2:c.499G>T NP_001274353.1:p.Gly167Cys
NM_004364.5:c.394G>T MANE Select NP_004355.2:p.Gly132Cys
NM_001285829.2:c.37G>T NP_001272758.1:p.Gly13Cys
NM_001287435.2:c.352G>T NP_001274364.1:p.Gly118Cys
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